Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Rims2'

30293

Institutional Source

Beutler Lab

Gene Symbol

Rims2

Ensembl Gene

ENSMUSG00000037386

Gene Name

regulating synaptic membrane exocytosis 2

Synonyms

RIM2, 2810036I15Rik, Syt3-rs

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R0367 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

39061681-39547768 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 39326011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]

AlphaFold

Q9EQZ7

Predicted Effect

probably null
Transcript: ENSMUST00000042917

SMART Domains

Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:FYVE_2	30	154	9.5e-18	PFAM
low complexity region	315	335	N/A	INTRINSIC
low complexity region	492	498	N/A	INTRINSIC
low complexity region	511	521	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
PDZ	646	725	8.27e-16	SMART
low complexity region	740	748	N/A	INTRINSIC
C2	790	897	4.08e-21	SMART
low complexity region	905	919	N/A	INTRINSIC
low complexity region	1085	1101	N/A	INTRINSIC
low complexity region	1116	1130	N/A	INTRINSIC
low complexity region	1208	1238	N/A	INTRINSIC
C2	1432	1535	3.78e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000082054

SMART Domains

Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:FYVE_2	76	194	2.2e-11	PFAM
low complexity region	355	375	N/A	INTRINSIC
low complexity region	532	538	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC
low complexity region	567	580	N/A	INTRINSIC
PDZ	686	765	8.27e-16	SMART
low complexity region	780	788	N/A	INTRINSIC
C2	830	937	4.08e-21	SMART
low complexity region	945	959	N/A	INTRINSIC
low complexity region	1075	1086	N/A	INTRINSIC
low complexity region	1166	1196	N/A	INTRINSIC
C2	1390	1493	3.78e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000227243

Predicted Effect

probably null
Transcript: ENSMUST00000227381

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Ccne2	T	A	4: 11,201,426 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Cpt1c	T	C	7: 44,608,999 (GRCm39)	N774S	probably benign	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Edem1	T	A	6: 108,823,713 (GRCm39)	Y370N	probably damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,513,453 (GRCm39)		probably benign	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Scnn1g	T	C	7: 121,345,802 (GRCm39)		probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,392,780 (GRCm39)	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	probably damaging	Het

Other mutations in Rims2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Rims2	APN	15	39,323,011 (GRCm39)	missense	probably benign	0.11
IGL00502:Rims2	APN	15	39,370,380 (GRCm39)	missense	probably damaging	1.00
IGL00556:Rims2	APN	15	39,320,070 (GRCm39)	splice site	probably null
IGL00811:Rims2	APN	15	39,155,544 (GRCm39)	missense	probably damaging	1.00
IGL00827:Rims2	APN	15	39,335,755 (GRCm39)	missense	probably damaging	0.99
IGL01642:Rims2	APN	15	39,321,192 (GRCm39)	missense	probably damaging	1.00
IGL02951:Rims2	APN	15	39,398,334 (GRCm39)	missense	probably damaging	1.00
IGL03009:Rims2	APN	15	39,430,393 (GRCm39)	missense	possibly damaging	0.85
IGL03080:Rims2	APN	15	39,399,299 (GRCm39)	missense	probably damaging	1.00
IGL03102:Rims2	APN	15	39,322,989 (GRCm39)	missense	possibly damaging	0.95
IGL03252:Rims2	APN	15	39,315,748 (GRCm39)	missense	probably benign
IGL03365:Rims2	APN	15	39,339,937 (GRCm39)	missense	probably damaging	1.00
IGL03393:Rims2	APN	15	39,326,009 (GRCm39)	splice site	probably null
IGL03409:Rims2	APN	15	39,320,129 (GRCm39)	missense	probably damaging	1.00
rhyme	UTSW	15	39,315,724 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Rims2	UTSW	15	39,339,916 (GRCm39)	missense	possibly damaging	0.67
R0009:Rims2	UTSW	15	39,398,362 (GRCm39)	missense	probably damaging	0.99
R0009:Rims2	UTSW	15	39,398,362 (GRCm39)	missense	probably damaging	0.99
R0078:Rims2	UTSW	15	39,398,251 (GRCm39)	missense	probably benign	0.42
R0401:Rims2	UTSW	15	39,373,028 (GRCm39)	splice site	probably benign
R0531:Rims2	UTSW	15	39,430,426 (GRCm39)	missense	probably damaging	1.00
R0791:Rims2	UTSW	15	39,543,021 (GRCm39)	splice site	probably benign
R0838:Rims2	UTSW	15	39,544,421 (GRCm39)	missense	probably benign	0.02
R1201:Rims2	UTSW	15	39,479,720 (GRCm39)	missense	possibly damaging	0.91
R1318:Rims2	UTSW	15	39,381,222 (GRCm39)	missense	probably damaging	0.99
R1457:Rims2	UTSW	15	39,374,710 (GRCm39)	missense	possibly damaging	0.63
R1619:Rims2	UTSW	15	39,370,382 (GRCm39)	missense	probably damaging	1.00
R1672:Rims2	UTSW	15	39,155,584 (GRCm39)	missense	probably benign	0.09
R1743:Rims2	UTSW	15	39,543,046 (GRCm39)	missense	probably benign	0.10
R1766:Rims2	UTSW	15	39,325,976 (GRCm39)	missense	probably damaging	0.99
R1779:Rims2	UTSW	15	39,545,098 (GRCm39)	missense	probably damaging	1.00
R1804:Rims2	UTSW	15	39,300,439 (GRCm39)	nonsense	probably null
R1985:Rims2	UTSW	15	39,208,710 (GRCm39)	missense	probably damaging	0.99
R1986:Rims2	UTSW	15	39,208,710 (GRCm39)	missense	probably damaging	0.99
R2113:Rims2	UTSW	15	39,374,722 (GRCm39)	missense	probably benign	0.17
R2260:Rims2	UTSW	15	39,341,962 (GRCm39)	nonsense	probably null
R2510:Rims2	UTSW	15	39,449,048 (GRCm39)	missense	probably damaging	1.00
R3693:Rims2	UTSW	15	39,341,971 (GRCm39)	missense	probably benign	0.01
R3937:Rims2	UTSW	15	39,301,241 (GRCm39)	missense	probably damaging	1.00
R4425:Rims2	UTSW	15	39,301,320 (GRCm39)	critical splice donor site	probably null
R4453:Rims2	UTSW	15	39,155,603 (GRCm39)	missense	probably damaging	1.00
R4474:Rims2	UTSW	15	39,325,956 (GRCm39)	missense	probably damaging	1.00
R4518:Rims2	UTSW	15	39,300,922 (GRCm39)	missense	probably damaging	1.00
R4526:Rims2	UTSW	15	39,301,113 (GRCm39)	missense	probably damaging	1.00
R4833:Rims2	UTSW	15	39,399,310 (GRCm39)	missense	probably damaging	0.98
R4936:Rims2	UTSW	15	39,301,124 (GRCm39)	missense	probably damaging	1.00
R4993:Rims2	UTSW	15	39,317,841 (GRCm39)	missense	possibly damaging	0.90
R5001:Rims2	UTSW	15	39,315,824 (GRCm39)	missense	probably benign	0.03
R5054:Rims2	UTSW	15	39,381,265 (GRCm39)	splice site	probably null
R5072:Rims2	UTSW	15	39,325,986 (GRCm39)	missense	probably benign	0.01
R5171:Rims2	UTSW	15	39,300,499 (GRCm39)	missense	probably damaging	1.00
R5429:Rims2	UTSW	15	39,208,751 (GRCm39)	missense	probably damaging	1.00
R5623:Rims2	UTSW	15	39,342,011 (GRCm39)	missense	probably damaging	1.00
R5624:Rims2	UTSW	15	39,208,809 (GRCm39)	missense	possibly damaging	0.46
R5685:Rims2	UTSW	15	39,300,602 (GRCm39)	missense	possibly damaging	0.67
R5784:Rims2	UTSW	15	39,399,383 (GRCm39)	splice site	probably null
R5790:Rims2	UTSW	15	39,544,441 (GRCm39)	missense	probably damaging	1.00
R5822:Rims2	UTSW	15	39,339,886 (GRCm39)	missense	probably damaging	1.00
R5963:Rims2	UTSW	15	39,300,578 (GRCm39)	missense	probably damaging	1.00
R5988:Rims2	UTSW	15	39,155,577 (GRCm39)	missense	probably damaging	1.00
R6057:Rims2	UTSW	15	39,538,416 (GRCm39)	missense	probably damaging	1.00
R6239:Rims2	UTSW	15	39,061,758 (GRCm39)	start codon destroyed	unknown
R6407:Rims2	UTSW	15	39,315,724 (GRCm39)	missense	probably damaging	1.00
R6418:Rims2	UTSW	15	39,373,092 (GRCm39)	missense	probably damaging	1.00
R6495:Rims2	UTSW	15	39,381,208 (GRCm39)	missense	probably benign	0.01
R6502:Rims2	UTSW	15	39,398,251 (GRCm39)	missense	probably benign	0.42
R6753:Rims2	UTSW	15	39,430,369 (GRCm39)	missense	possibly damaging	0.74
R6855:Rims2	UTSW	15	39,208,911 (GRCm39)	missense	probably benign	0.06
R6948:Rims2	UTSW	15	39,374,737 (GRCm39)	missense	probably benign
R7058:Rims2	UTSW	15	39,449,044 (GRCm39)	missense	probably damaging	1.00
R7167:Rims2	UTSW	15	39,300,473 (GRCm39)	missense	probably benign
R7217:Rims2	UTSW	15	39,339,885 (GRCm39)	missense	probably damaging	0.99
R7223:Rims2	UTSW	15	39,300,428 (GRCm39)	missense	probably benign	0.30
R7289:Rims2	UTSW	15	39,301,114 (GRCm39)	missense	probably benign	0.00
R7459:Rims2	UTSW	15	39,381,235 (GRCm39)	missense	probably benign
R7663:Rims2	UTSW	15	39,370,422 (GRCm39)	missense	probably damaging	1.00
R7792:Rims2	UTSW	15	39,061,923 (GRCm39)	missense	possibly damaging	0.69
R7836:Rims2	UTSW	15	39,544,475 (GRCm39)	missense	probably damaging	1.00
R8082:Rims2	UTSW	15	39,339,919 (GRCm39)	missense	probably benign	0.34
R8489:Rims2	UTSW	15	39,479,846 (GRCm39)	missense	probably damaging	1.00
R8730:Rims2	UTSW	15	39,381,239 (GRCm39)	missense	probably benign	0.01
R8830:Rims2	UTSW	15	39,300,758 (GRCm39)	missense	possibly damaging	0.64
R8857:Rims2	UTSW	15	39,543,044 (GRCm39)	missense	possibly damaging	0.95
R8893:Rims2	UTSW	15	39,398,350 (GRCm39)	missense	probably benign	0.02
R9010:Rims2	UTSW	15	39,315,786 (GRCm39)	nonsense	probably null
R9030:Rims2	UTSW	15	39,339,873 (GRCm39)	missense	probably damaging	1.00
R9287:Rims2	UTSW	15	39,543,086 (GRCm39)	missense	probably damaging	1.00
R9395:Rims2	UTSW	15	39,155,664 (GRCm39)	missense	probably damaging	1.00
R9451:Rims2	UTSW	15	39,300,724 (GRCm39)	missense	probably damaging	1.00
R9506:Rims2	UTSW	15	39,335,832 (GRCm39)	missense	probably damaging	0.97
X0034:Rims2	UTSW	15	39,300,930 (GRCm39)	missense	probably benign
Z1177:Rims2	UTSW	15	39,544,510 (GRCm39)	missense	probably damaging	1.00
Z1177:Rims2	UTSW	15	39,342,086 (GRCm39)	frame shift	probably null
Z1177:Rims2	UTSW	15	39,301,165 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- GCGTTTAAAGAAGCCTGTTGAGCATTC -3'
(R):5'- TCACCCCAACTTCTGAAAGTGTGATG -3'

Sequencing Primer
(F):5'- CCTGTTGAGCATTCTAAAATAGGAAG -3'
(R):5'- GATTAAAAGAGGGGTTACATATCGTC -3'

Posted On

2013-04-24